Table 5.
Gene variants analyzed in our laboratories associated with the reported syndromes. Mutation nucleotide-numbering is based on reference sequences (RefSeq) for nuclear genes and on the genomic Revised Cambridge Reference Sequence (rCRS) sequence (RefSeq accession number NC_012920.1) for mitochondrial genes. “*” indicates a premature protein truncation.
| Gene | NT Mutation | AA Mutation | Syndromes |
|---|---|---|---|
| MT-ND5 | m.13513G>A | D393N | LS, MELAS/LS overlap syndrome |
| MT-ND5 | m.13042G>A | A236T | LS, MERRF/MELAS syndrome, LHON-like syndrome |
| NDUFAF6 | compound heterozygosity, NM_152416.4: c.532G>C; p.A178P; deep intronic c.420 + 784C>T NM_152416.4: c.371T>C; p.I124T |
A178P + intron I124T |
LS |
| MT-TK | m.8344A>G | na | MERRF, LS |
| MT-TK | m.8363G>A | na | MERRF, Cardiomiopathy and deafness, LS |
| MT-TL1 | m.3243A>G | na | MELAS, MIDD, PEO |
| MT-TF | m.641A>T | na | Mitochondrial encephalomyopathy |
| CRAT | compound heterozygosity, NM_000755.4: c.329A>G, p.Y110C c.1705G>A, p.V569M |
Y110C; V569M |
Mitochondrial encephalomyopathy |
| SLC25A10 | compound heterozygosity, NM_001270888.1: c.304AZT, p.K102 *; c.684C>T, p.P228P; intronic c.790-37G>A |
K102 *; P228P + intronic |
Mitochondrial encephalomyopathy |
| EARS2 | compound heterozygosity, NM_001083614.2 c.322C>T, p.R108W; c.502A>G, p.R168G; hexon 7 insertion c.1278_1279insCTC, p.Leu427ins |
R108W; R168G + L427ins |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) |
| SERAC1 | Homozygous, NM_03286.1 c.1709 G>A; p.G526E; c. 1643_1646 dup ATCT, p.Leu550-SerfsX19; c.1593T>G, p.S531R |
G526E L550-SfsX19; S531R |
MEGDEL |